Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
HRAS	gene	HRAS	Other	Segmental overgrowth disorders - Deep sequencing		Dermatology		Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200						False	1	0;0;0	4.5	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
KRAS	gene	KRAS	Other	Segmental overgrowth disorders - Deep sequencing		Dermatology		Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200						False	1	0;0;0	4.5	False		ENSG00000133703	ENSG00000133703	HGNC:6407													
MTOR	gene	MTOR	UKGTN	Segmental overgrowth disorders - Deep sequencing		Dermatology		Segmental Overgrowth Syndrome; Hemimegalencephaly; HME				22729223		False	1	0;0;0	4.5	False		ENSG00000198793	ENSG00000198793	HGNC:3942													
NRAS	gene	NRAS	Other	Segmental overgrowth disorders - Deep sequencing		Dermatology		Hemimegalencephaly; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200						False	1	0;0;0	4.5	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
PADI6	gene	PADI6	Expert Review Red;Literature;NHS GMS	Segmental overgrowth disorders - Deep sequencing		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Preimplantation embryonic lethality 2 OMIM:617234;Beckwith-Wiedemann syndrome				32928291;33221824		False	1	0;0;100	4.5	False		ENSG00000256049	ENSG00000276747	HGNC:20449													
TBC1D7	gene	TBC1D7	Expert Review;Expert Review Red	Segmental overgrowth disorders - Deep sequencing		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000				24515783;23687350		False	1	100;0;0	4.5	False		ENSG00000145979	ENSG00000145979	HGNC:21066